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WHIM syndrome MeSH Supplementary Concept Data 2024


MeSH Supplementary
WHIM syndrome
Unique ID
C536697
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536697
Entry Term(s)
Warts, hypogammaglobulinemia, infections, and myelokathexis
Previous Indexing
IMMUNOLOGIC DEFICIENCY SYNDROMES (2013-2019)
Heading Mapped to
*Warts
*Primary Immunodeficiency Diseases
Frequency
87
Note
A hereditary autosomal dominant immunologic deficiency syndrome characterized by NEUTROPENIA; AGAMMAGLOBULINEMIA, and extensive human papillomavirus (HPV) infection. Despite the peripheral neutropenia, bone marrow aspirates from affected individuals contain abundant mature MYELOID CELLS (myelokathexis). The susceptibility to HPV is disproportionate compared with other immunodeficiency conditions. Mutations in the CXCR4 gene have been identified. OMIM: 193670
Date of Entry
2010/08/25
Revision Date
2019/06/17
WHIM syndrome Preferred
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